Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Loeys-Dietz syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Infancy, Neonatal
Logopenic progressive aphasia
Multigenic/multifactorial, Not applicable
Adult
Loiasis
Not applicable
All ages
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Autosomal recessive
Infancy, Neonatal
Loose anagen syndrome
Autosomal dominant
Childhood
Low oxygen affinity alpha chain hemoglobin disease
Autosomal dominant
Low oxygen affinity beta chain hemoglobin disease
Autosomal dominant
Low oxygen affinity gamma chain hemoglobin disease
Autosomal dominant
Infancy, Neonatal
Low oxygen affinity hemoglobin disease
Autosomal dominant
Low phospholipid-associated cholelithiasis
Autosomal dominant, Autosomal recessive
Adult
Low-flow priapism
Not applicable
All ages
Lowe-Kohn-Cohen syndrome
Antenatal, Neonatal
Lower limb malformation-hypospadias syndrome
Neonatal
Lower motor neuron syndrome with late-adult onset
Autosomal dominant
Adult
Lowry-MacLean syndrome
Autosomal dominant
Infancy, Neonatal
Lowry-Wood syndrome
Autosomal recessive
Neonatal
Lujan-Fryns syndrome
X-linked recessive
Infancy, Neonatal
Lujo hemorrhagic fever
All ages
Lung agenesis-heart defect-thumb anomalies syndrome
Antenatal
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Infancy
Lupus erythematosus panniculitis
Adolescent, Adult, Childhood, Elderly, Infancy
Lupus erythematosus tumidus
Adolescent, Adult, Childhood, Elderly
Luscan-Lumish syndrome
Autosomal dominant
Antenatal, Childhood, Infancy, Neonatal
Lyme disease
Not applicable
All ages